Collaboration for rare diabetes: understanding new treatment options for Wolfram syndrome

[1]  V. Tillmann,et al.  Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN) , 2020, Orphanet Journal of Rare Diseases.

[2]  O. Dekkers,et al.  SUN-070 European Registries for Rare Endocrine Conditions (EuRRECa): Results from the Platform for E-reporting of Rare Endocrine Conditions (e-REC) , 2020, Journal of the Endocrine Society.

[3]  Mark S. Anderson,et al.  SAT-418 Finding the Needles in the Haystack: Harnessing the Electronic Health Record to Find Thyroid Immune Related Adverse Events , 2020, Journal of the Endocrine Society.

[4]  R. Peeters,et al.  An overview of clinical activities in Endo-ERN: the need for alignment of future network criteria. , 2020, European Journal of Endocrinology.

[5]  F. Urano,et al.  Gene-edited human stem cell–derived β cells from a patient with monogenic diabetes reverse preexisting diabetes in mice , 2020, Science Translational Medicine.

[6]  T. Tajima,et al.  Effect of 4-phenylbutyrate and valproate on dominant mutations of WFS1 gene in Wolfram syndrome , 2020, Journal of Endocrinological Investigation.

[7]  A. Terasmaa,et al.  GLP-1 receptor agonist liraglutide has a neuroprotective effect on an aged rat model of Wolfram syndrome , 2019, Scientific Reports.

[8]  J. H. van der Lee,et al.  Involve Children and Parents in Clinical Studies , 2019, Clinical and translational science.

[9]  F. Urano,et al.  Current Landscape of Treatments for Wolfram Syndrome. , 2019, Trends in pharmacological sciences.

[10]  M. Maghnie,et al.  Addressing gaps in care of people with conditions affecting sex development and maturation , 2019, Nature Reviews Endocrinology.

[11]  G. d’Annunzio,et al.  Wolfram syndrome 1 in the Italian population: genotype–phenotype correlations , 2019, Pediatric Research.

[12]  M. McCarthy,et al.  Fostering improved human islet research: a European perspective , 2019, Diabetologia.

[13]  J. Rieusset,et al.  Differential Effect of Glucose on ER-Mitochondria Ca2+ Exchange Participates in Insulin Secretion and Glucotoxicity-Mediated Dysfunction of β-Cells , 2019, Diabetes.

[14]  E. Akl,et al.  Strategies for eliciting and synthesizing evidence for guidelines in rare diseases , 2019, BMC Medical Research Methodology.

[15]  O. Dekkers,et al.  The current landscape of European registries for rare endocrine conditions , 2018, European journal of endocrinology.

[16]  F. Bianchi,et al.  Recommendations for Improving the Quality of Rare Disease Registries , 2018, International journal of environmental research and public health.

[17]  S. Seino,et al.  Activation of GLP-1 receptor signalling alleviates cellular stresses and improves beta cell function in a mouse model of Wolfram syndrome , 2018, Diabetologia.

[18]  A. Terasmaa,et al.  Preventive treatment with liraglutide protects against development of glucose intolerance in a rat model of Wolfram syndrome , 2018, Scientific Reports.

[19]  P. Bramanti,et al.  Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease , 2018, Pediatric Research.

[20]  Kathleen R. Bogart,et al.  Health-related quality of life among adults with diverse rare disorders , 2017, Orphanet Journal of Rare Diseases.

[21]  C. B. Soares,et al.  Experiences and shared meaning of teamwork and interprofessional collaboration among health care professionals in primary health care settings: a systematic review , 2017, JBI database of systematic reviews and implementation reports.

[22]  Christine M. Cutillo,et al.  Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective , 2017, Clinical and translational science.

[23]  Christine M. Cutillo,et al.  Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective , 2017, Clinical and translational science.

[24]  Christine M. Cutillo,et al.  The importance of international collaboration for rare diseases research: a European perspective , 2017, Gene Therapy.

[25]  Frank Klawonn,et al.  Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey , 2017, PloS one.

[26]  Hongyu Zhang,et al.  Valproate Attenuates Endoplasmic Reticulum Stress-Induced Apoptosis in SH-SY5Y Cells via the AKT/GSK3β Signaling Pathway , 2017, International journal of molecular sciences.

[27]  H. Yoshida,et al.  Endoplasmic Reticulum (ER) Stress and Endocrine Disorders , 2017, International journal of molecular sciences.

[28]  N. Bratina,et al.  A description of clinician reported diagnosis of type 2 diabetes and other non‐type 1 diabetes included in a large international multicentered pediatric diabetes registry (SWEET) , 2016, Pediatric diabetes.

[29]  F. Urano.  Wolfram Syndrome: Diagnosis, Management, and Treatment , 2016, Current Diabetes Reports.

[30]  H. Chae,et al.  ER Stress and Autophagy. , 2015, Current molecular medicine.

[31]  F. Urano,et al.  A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome , 2014, Proceedings of the National Academy of Sciences.

[32]  W. Chung,et al.  β-Cell Dysfunction Due to Increased ER Stress in a Stem Cell Model of Wolfram Syndrome , 2014, Diabetes.

[33]  T. Hullar,et al.  Audiologic and Vestibular Findings in Wolfram Syndrome , 2013, Ear and hearing.

[34]  V. Nunes,et al.  Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype , 2013, Genetics in Medicine.

[35]  G. Salzano,et al.  Diabetes and Neurodegeneration in Wolfram Syndrome , 2011, Diabetes Care.

[36]  S. Kõks,et al.  Wfs1 mutation makes mice sensitive to insulin-like effect of acute valproic acid and resistant to streptozocin , 2011, Journal of Physiology and Biochemistry.

[37]  S. A. E. Mkadem,et al.  Neurologic features and genotype‐phenotype correlation in Wolfram syndrome , 2011, Annals of neurology.

[38]  F. Lombardo,et al.  Wolfram syndrome and WFS1 gene , 2011, Clinical genetics.

[39]  M. Permutt,et al.  Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells. , 2010, The Journal of clinical investigation.

[40]  Sharath Kumar.  Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists , 2010, Pediatric diabetes.

[41]  S. Fonseca,et al.  Valproate, a Mood Stabilizer, Induces WFS1 Expression and Modulates Its Interaction with ER Stress Protein GRP94 , 2009, PloS one.

[42]  J. Rehfeld,et al.  Distribution of Wfs1 protein in the central nervous system of the mouse and its relation to clinical symptoms of the Wolfram syndrome , 2008, The Journal of comparative neurology.

[43]  H. Aburatani,et al.  WFS1-deficiency increases endoplasmic reticulum stress, impairs cell cycle progression and triggers the apoptotic pathway specifically in pancreatic beta-cells. , 2006, Human molecular genetics.

[44]  V. Nunes,et al.  Wolfram/DIDMOAD syndrome, a heterogenic and molecularly complex neurodegenerative disease. , 2006, Pediatric endocrinology reviews : PER.

[45]  T. Rosenberg,et al.  Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified , 2005, European Journal of Human Genetics.

[46]  Y. Oka,et al.  Endoplasmic reticulum stress induces Wfs1 gene expression in pancreatic beta-cells via transcriptional activation. , 2005, European journal of endocrinology.

[47]  Yoshifumi Watanabe,et al.  WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. , 2001, Human molecular genetics.

[48]  T. Barrett,et al.  Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome , 1995, The Lancet.

[49]  Christopher P Austin,et al.  A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC). , 2017, Advances in experimental medicine and biology.

[50]  Yoshifumi Watanabe,et al.  WFS 1 ( Wolfram syndrome 1 ) gene product : predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain , 2001 .